遺伝性難聴 - MGenReviews

遺伝性難聴

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs)	WFS1	Likely pathogenic	4	6303729	6303732	GGCGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621816
single nucleotide variant	NM_006005.3(WFS1):c.605A>G (p.Glu202Gly)	WFS1	Pathogenic/Likely pathogenic	4	6293068	6293068	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618051
Deletion	NM_006005.3(WFS1):c.124del (p.Arg42fs)	WFS1	Pathogenic	4	6279303	6279303	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618050
single nucleotide variant	NM_006005.3(WFS1):c.2170C>T (p.Pro724Ser)	WFS1	Pathogenic	4	6303692	6303692	C	T	criteria provided, single submitter	ClinGen:CA2839633
single nucleotide variant	NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)	WFS1	Pathogenic/Likely pathogenic	4	6290774	6290774	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2838877
single nucleotide variant	NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)	WFS1	Pathogenic	4	6303361	6303361	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2839516
single nucleotide variant	NM_006005.3(WFS1):c.937C>T (p.His313Tyr)	WFS1	Likely pathogenic	4	6302459	6302459	C	T	criteria provided, single submitter	ClinGen:CA10606914
single nucleotide variant	NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn)	WFS1	Likely pathogenic	4	6304030	6304030	G	C	criteria provided, single submitter	ClinGen:CA10576641,UniProtKB:O76024#VAR_068346,OMIM:606201.0027
Deletion	NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs)	WFS1	Pathogenic/Likely pathogenic	4	6304164	6304165	TTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA324155,OMIM:606201.0001
single nucleotide variant	NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys)	WFS1	Pathogenic	4	6303947	6303947	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA325167